The common MTHFR deficiencies are usually asymptomatic, although the 677T variant can cause a mildly increased risk of some diseases.

We present a case of a male term neonate with lethargy, hypotonia, hypoventilation and severe encephalopathy. The infant had a history of two siblings who died in the neonatal period from unclear ...

Patients with AF had threefold higher risk for shock, bleeding complications, and all-cause mortality when undergoing ...

作者|谭晓珍单位|开平市中心医院检验科 前言在忙碌的检验科工作中，一位孕妇拿着一份报告单前来咨询，仔细一看原来是一份叶酸代谢能力基因检测的检验报告单（图1），该孕妇表示：检测结果一栏的几个英文字母是什么意思，想知道这份报告该怎么看，验来有什么用的？笔 ...

The study reveals 44 differentially expressed proteins in cleft palate models, shedding light on molecular mechanisms and ...

Recommended testing includes a very long chain fatty acid (VLCFA) profile in men (ALD), specific white cell enzyme activities (Krabbe disease, MLD), raised serum cholestanol/urinary bile alcohols ...

Inborn errors of metabolism (IEMs) are genetic disorders characterized by dysfunction of an enzyme or other protein involved in cellular metabolism. In most cases, IEMs involve the nervous system.

Although MTX was initially introduced as a chemotherapeutic agent for the treatment of malignancies, it is clear that, in the doses used, the mechanism of action in the suppression of inflammation ...

What exactly is nitrous oxide, and how does it work? Nitrous oxide, or “laughing gas,” has medical roots in dentistry for over a century. It is a colorless and odorless gas inhaled through a mask to ...

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